ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.258G>A (p.Ser86=)

gnomAD frequency: 0.00004  dbSNP: rs369789111
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000875032 SCV001017298 likely benign Dyskeratosis congenita 2021-08-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003151169 SCV003839401 likely benign not specified 2022-05-06 no assertion criteria provided clinical testing

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